IthaID: 3760

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>AAC [Asp>Asn] HGVS Name: HBA1:c.226G>A
Hb Name: Hb Matsue-Oki Protein Info: α1 75(EF4) Asp>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Unclear
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37922
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Japanese, British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ohba Y, Miyaji T, Matsuoka M, Takeda I, Fukuba Y, Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine., Hemoglobin , 1(4), 383-8, 1977 PubMed
  2. Moo-Penn WF, Johnson MH, Therrell BL, Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American., Hemoglobin , 2(1), 71-4, 1978 PubMed
  3. Yi-Tao Z, Headlee ME, Henson J, Lam H, Wilson JB, Huisman TH, Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant., Biochim. Biophys. Acta , 707(2), 206-12, 1982 PubMed
  4. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2021-03-31 21:52:30, Last reviewed on (Show full history)

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